Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry

BACKGROUND: Oligosaccharidoses, which belong to the lysosomal storage diseases, are inherited metabolic disorders due to the absence or the loss of function of one of the enzymes involved in the catabolic pathway of glycoproteins and indirectly of glycosphingolipids. This enzymatic deficiency typica...

Descripción completa

Detalles Bibliográficos
Autores principales: Bonesso, Laurent, Piraud, Monique, Caruba, Céline, Van Obberghen, Emmanuel, Mengual, Raymond, Hinault, Charlotte
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922009/
https://www.ncbi.nlm.nih.gov/pubmed/24502792
http://dx.doi.org/10.1186/1750-1172-9-19

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922009/
https://www.ncbi.nlm.nih.gov/pubmed/24502792
http://dx.doi.org/10.1186/1750-1172-9-19

Ejemplares similares